Works matching IS 23249269 AND DT 2025 AND VI 13 AND IP 4

Results: 11

Expanding the Clinical and Genetic Spectrum of Mitochondrial Short‐Chain Enoyl‐CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70097

By:

Wu, Jihua;
Hu, Xuehui;
Zhao, Zhongli;
Zhao, Zhen;
Yang, Bin

Publication type:

Article

Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels.

Published in:

2025

By:

Shen, Liwei;
Ye, Xiaofei;
Wang, Xiaocui;
Song, Conglei;
Yang, Bin

Publication type:

Case Study

SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70098

By:

Li, Yijing;
Sun, Tao;
Hu, Sang;
Xu, Hongen;
Zhang, Teng;
Liu, Jinlong;
Lu, Shuangshuang;
Wang, Bing;
Dan, Guo

Publication type:

Article

First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70096

By:

Racine, Caroline;
Garde, Aurore;
Martz, Olivia;
Safraou, Hana;
Eluard, Vinciane;
Rousseau, Thierry;
Marle, Nathalie;
Harizay, Fara T.;
Martin, Laurent;
Maraval, Julien;
Bruel, Ange‐Line;
Philippe, Christophe;
Thauvin‐Robinet, Christel;
Faivre, Laurence

Publication type:

Article

Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers–Danlos Syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70095

By:

Miolo, Gianmaria;
Machin, Piernicola;
De Conto, Marco;
Fortuna, Sara;
Viglio, Simona;
Della Puppa, Lara;
Geremia, Silvano;
Corona, Giuseppe

Publication type:

Article

Identification of Compound Heterozygous Variants in OBSCN Gene Associated With Rhabdomyolysis: A Case Report.

Published in:

2025

By:

Sun, Xiaolan;
Chen, Yong;
Zhong, Jianmin;
Chen, Hui;
Xie, Jihua;
Wang, Ruiyan

Publication type:

Case Study

A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70093

By:

Metry, Denise W.;
Siegel, Dawn H.;
Keppler‐Noreuil, Kim M.

Publication type:

Article

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici‐Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70089

By:

Li, Shaoxin;
Fang, Hui;
Li, Hong;
Peng, Min;
Bao, Jinsong;
Cai, Yunfei;
Chen, Jing;
Li, Zhige

Publication type:

Article

A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.70079

By:

Jin, Yuan;
Niu, Qian;
Liang, Shan Na;
Luo, Mei Ling;
Su, Xiao Lin;
Tao, Zhe

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.2457
Publication type:: Article

COG6‐related prenatal phenotype (CDG2L): Clinico‐pathological report and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 4, p. 1, doi. 10.1002/mgg3.2442

By:

Guterman, Sarah;
Feresin, Agnese;
Boutaud, Lucile;
Jacquin, Clémence;
Lyonnet, Stanislas;
Bernard, Jean‐Pierre;
Colmant, Claire;
Roth, Philippe;
Bourgon, Nicolas;
Mace, Pierre;
Thoreau, Alice;
Ville, Yves;
Bengoa, Joana;
Ait Arkoub, Zaina;
Fourrage, Cécile;
Encha‐Razavi, Ferechté;
Bessières, Bettina;
Attié‐Bitach, Tania

Publication type:

Article